Incidental Mutation 'R8355:Gvin1'
ID 660277
Institutional Source Beutler Lab
Gene Symbol Gvin1
Ensembl Gene ENSMUSG00000045868
Gene Name GTPase, very large interferon inducible 1
Synonyms VLIG-1, Iigs1, 9130002C22Rik, VLIG, 9830104F22Rik
MMRRC Submission 067869-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8355 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 105755763-105814533 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105757312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 2386 (W2386R)
Ref Sequence ENSEMBL: ENSMUSP00000138950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006667] [ENSMUST00000183409]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000006667
AA Change: W2386R

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000006667
Gene: ENSMUSG00000045868
AA Change: W2386R

DomainStartEndE-ValueType
low complexity region 104 116 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Blast:PGAM 860 1554 7e-61 BLAST
coiled coil region 1625 1655 N/A INTRINSIC
low complexity region 1769 1781 N/A INTRINSIC
coiled coil region 1851 1877 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183409
AA Change: W2386R

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138950
Gene: ENSMUSG00000045868
AA Change: W2386R

DomainStartEndE-ValueType
low complexity region 104 116 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Blast:PGAM 860 1554 7e-61 BLAST
coiled coil region 1625 1655 N/A INTRINSIC
low complexity region 1769 1781 N/A INTRINSIC
coiled coil region 1851 1877 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,638,478 (GRCm39) H145Q probably benign Het
Acsf2 A T 11: 94,461,450 (GRCm39) M293K probably benign Het
Ak9 G A 10: 41,275,700 (GRCm39) R1112Q Het
Ano8 T C 8: 71,933,210 (GRCm39) probably benign Het
Ap3b2 A T 7: 81,122,851 (GRCm39) V462E probably damaging Het
Arid1a T C 4: 133,448,174 (GRCm39) Q498R unknown Het
AW011738 C A 4: 156,287,837 (GRCm39) probably benign Het
Bhlhe41 T A 6: 145,811,028 (GRCm39) probably null Het
Bnc1 A C 7: 81,618,624 (GRCm39) S814A probably damaging Het
Bnip5 T A 17: 29,122,249 (GRCm39) Q414L probably damaging Het
Cage1 A T 13: 38,203,225 (GRCm39) L613H probably damaging Het
Camk1g T C 1: 193,033,355 (GRCm39) I231V probably damaging Het
Catspere2 T C 1: 177,845,276 (GRCm39) Y99H possibly damaging Het
Ccdc50 A G 16: 27,236,101 (GRCm39) Y145C probably benign Het
Cdcp1 A G 9: 123,002,888 (GRCm39) S728P probably benign Het
Chrm3 A T 13: 9,928,646 (GRCm39) M130K probably damaging Het
Csf1r T C 18: 61,261,222 (GRCm39) F766S probably damaging Het
Dact3 A G 7: 16,617,125 (GRCm39) D108G probably damaging Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A C 17: 30,914,152 (GRCm39) L1099F possibly damaging Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gk5 T C 9: 96,032,839 (GRCm39) V274A possibly damaging Het
Gnpat T C 8: 125,597,579 (GRCm39) F47S probably benign Het
Gsap G T 5: 21,456,017 (GRCm39) G374* probably null Het
Gtf2h2 A T 13: 100,605,503 (GRCm39) F368Y possibly damaging Het
Ighe A T 12: 113,235,167 (GRCm39) L331* probably null Het
Iqank1 C A 15: 75,906,073 (GRCm39) Q87K probably benign Het
Itch T A 2: 155,052,502 (GRCm39) probably null Het
Lars2 G A 9: 123,283,780 (GRCm39) A683T probably damaging Het
Lin7a C T 10: 107,218,497 (GRCm39) R14C probably damaging Het
Lrp2 C T 2: 69,346,828 (GRCm39) S806N probably damaging Het
Lrrc8e T A 8: 4,284,018 (GRCm39) M81K probably benign Het
Mcm3ap C A 10: 76,329,335 (GRCm39) T1172K probably benign Het
Mrm3 A T 11: 76,141,164 (GRCm39) M391L possibly damaging Het
Myo9a T C 9: 59,817,130 (GRCm39) S2278P probably damaging Het
Ncln T C 10: 81,323,703 (GRCm39) K511E probably damaging Het
Or2y17 G T 11: 49,231,592 (GRCm39) V78L possibly damaging Het
Or8b101 A G 9: 38,020,258 (GRCm39) K87R probably benign Het
Pcdhb10 G T 18: 37,545,134 (GRCm39) G70V probably damaging Het
Phf24 A G 4: 42,933,735 (GRCm39) E39G probably benign Het
Plat C A 8: 23,261,758 (GRCm39) S52* probably null Het
Pramel52-ps T C 5: 94,531,772 (GRCm39) C219R probably damaging Het
Ptpru C A 4: 131,535,811 (GRCm39) G389C probably damaging Het
Rnpep T C 1: 135,195,005 (GRCm39) D407G probably damaging Het
Rttn G A 18: 89,047,016 (GRCm39) V893I probably benign Het
Slit1 A G 19: 41,634,473 (GRCm39) L428P probably damaging Het
Tet1 T A 10: 62,652,229 (GRCm39) L1596F possibly damaging Het
Thsd7b T C 1: 129,523,616 (GRCm39) C140R probably damaging Het
Usp17le A T 7: 104,418,752 (GRCm39) M130K possibly damaging Het
Vmn2r92 T G 17: 18,405,061 (GRCm39) I735S probably damaging Het
Zbtb42 A T 12: 112,645,969 (GRCm39) Y48F probably damaging Het
Zbtb43 C T 2: 33,345,120 (GRCm39) G35D possibly damaging Het
Zfp1005 T A 2: 150,109,876 (GRCm39) C189S unknown Het
Other mutations in Gvin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00903:Gvin1 APN 7 105,757,377 (GRCm39) missense probably benign 0.00
R4860:Gvin1 UTSW 7 105,762,643 (GRCm39) missense possibly damaging 0.95
R4860:Gvin1 UTSW 7 105,762,643 (GRCm39) missense possibly damaging 0.95
R5648:Gvin1 UTSW 7 105,762,606 (GRCm39) missense possibly damaging 0.92
R5806:Gvin1 UTSW 7 105,757,413 (GRCm39) missense probably benign
R8970:Gvin1 UTSW 7 105,762,647 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGAAGTAAAATTTCTGTGGCCCATC -3'
(R):5'- AGACCACAGTGTGCCATTCC -3'

Sequencing Primer
(F):5'- AAATTTCTGTGGCCCATCTAGTG -3'
(R):5'- TCAGTGGTTGGCATTGGCATAAAAC -3'
Posted On 2021-01-18